Defective OPLAH does not hydrolyse OPRO

Stable Identifier
Reaction [transition]
Homo sapiens
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The gamma-glutamyl cycle is a six-enzyme cycle that represents the primary pathway for glutathione synthesis and degradation. One step is the cleavage of 5-oxo-L-proline (OPRO) to form L-glutamate, coupled to the hydrolysis of ATP. This is catalysed by 5-oxoprolinase (OPLAH) is a homodimeric, cytosolic protein. Defects in OPLAH can cause 5-oxoprolinase deficiency (OPLAHD; MIM:260005), an extremely rare disorder of the gamma-glutamyl cycle about which debate continues as to whether it is a disorder or just a biochemical condition with no adverse clinical effects apart from 5-oxoprolinuria. Mutations that can cause OPLAHD are S323R, V1089I and H870Pfs*92 (Calpena et al. 2013, Almaghlouth et al. 2012).

Literature References
PubMed ID Title Journal Year
23430506 5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes

Martínez-Rubio, D, Espinós, C, Artuch, R, Gargallo, E, Garcia-Cazorla, A, Calpena, E, Casado, M, Palau, F, Colomer, J, Nascimento, A

JIMD Rep 2013
21651516 5-Oxoprolinase deficiency: report of the first human OPLAH mutation

Al-Ahaidib, L, Mohamed, JY, Alkuraya, FS, Almaghlouth, IA, Al-Odaib, A, Al-Amoudi, M

Clin. Genet. 2012
Catalyst Activity

5-oxoprolinase (ATP-hydrolyzing) activity of OPLAH mutants [cytosol]

Normal reaction
Functional status

Loss of function of OPLAH mutants [cytosol]

Name Identifier Synonyms
inherited metabolic disorder DOID:655 Metabolic hereditary disorder, Inborn Errors of Metabolism, inborn metabolism disorder
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